keyword
MENU ▼
Read by QxMD icon Read
search

Congenital cataract

keyword
https://www.readbyqxmd.com/read/28298635/novel-mutations-in-crygc-are-associated-with-congenital-cataracts-in-chinese-families
#1
Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen
Congenital cataract (CC), responsible for about one-third of blindness in infants, is a major cause of vision loss in children worldwide. 10-25% of CC cases are attributed to genetic causes and CC is a clinically and genetically highly heterogeneous lens disorder in children. Autosomal dominant (AD) inheritance is the most commonly pattern. 195 unrelated non-syndromic ADCC families in this study are recruited from 15 provinces of China. Sanger sequencing approach followed by intra-familial co-segregation, in Silico analyses and interpretation of the variations according to the published guidelines of American College of Medical Genetics (ACMG), were employed to determine the genetic defects...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28294978/discriminative-features-in-three-autosomal-recessive-cutis-laxa-syndromes-cutis-laxa-iia-cutis-laxa-iib-and-geroderma-osteoplastica
#2
REVIEW
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28278293/correction-deletion-at-the-gcnt2-locus-causes-autosomal-recessive-congenital-cataracts
#3
Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
[This corrects the article DOI: 10.1371/journal.pone.0167562.].
2017: PloS One
https://www.readbyqxmd.com/read/28272538/partial-duplication-of-the-crybb1-cryba4-locus-is-associated-with-autosomal-dominant-congenital-cataract
#4
Owen M Siggs, Shari Javadiyan, Shiwani Sharma, Emmanuelle Souzeau, Karen M Lower, Deepa A Taranath, Jo Black, John Pater, John G Willoughby, Kathryn P Burdon, Jamie E Craig
Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified by exome sequencing, yet copy number variant analysis revealed a duplication spanning both CRYBB1 and CRYBA4. While the CRYBA4 duplication was complete, the CRYBB1 duplication was not, with the duplicated CRYBB1 product predicted to create a gain of function allele...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28271591/a-novel-heterozygous-mutation-of-the-wfs1-gene-leading-to-constitutive-endoplasmic-reticulum-stress-is-the-cause-of-wolfram-syndrome
#5
Shuntaro Morikawa, Toshihiro Tajima, Akie Nakamura, Katsura Ishizu, Tadashi Ariga
BACKGROUND: Wolfram syndrome (WS) is a disorder characterized by the association of insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and optic nerve atrophy. WS is caused by WFS1 mutations encoding WFS1 protein expressed in endoplasmic reticulum (ER). During ER protein synthesis, misfolded and unfolded proteins accumulate, known as "ER stress". This is attenuated by the unfolded protein response (UPR), which recovers and maintains ER functions. Because WFS1 is a UPR component, mutant WFS1 might cause unresolvable ER stress conditions and cell apoptosis, the major causes underlying WS symptoms...
March 8, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28267770/correction-identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#6
Hyun-Seok Jin, Jeonghyung Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
[This corrects the article DOI: 10.1371/journal.pone.0169226.].
2017: PloS One
https://www.readbyqxmd.com/read/28254265/outcomes-of-pediatric-cataract-surgery-with-triamcinolone-assisted-vitrectomy
#7
Tzu-Hsun Tsai, Chia-Ying Tsai, Jehn-Yu Huang, Fung-Rong Hu
PURPOSE: To evaluate outcomes in pediatric patients undergoing lensectomy, posterior capsulotomy, and triamcinolone-assisted vitrectomy for congenital cataract. METHODS: This retrospective study included 34 patients younger than 72 months who underwent lensectomy, posterior capsulotomy, and triamcinolone-assisted vitrectomy with or without intraocular lens (IOL) implantation for cataract at the National Taiwan University Hospital from July 2006 to December 2012...
February 18, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28249924/whole-exome-sequencing-identifies-a-novel-mutation-in-the-pitx3-gene-causing-autosomal-dominant-congenital-cataracts-in-a-chinese-family
#8
Hui Liu, Hankui Liu, Junxiang Tang, Qiongfen Lin, Yuxiu Sun, Chaohong Wang, Huanming Yang, Muhammad Riaz Khan, Mohamud Walid Peerbux, Sohail Ahmad, Ihtisham Bukhari, Jiansheng Zhu
BACKGROUND: Congenital cataract is the cloudiness of the eye's natural lens and is a primary cause of congenital vision loss. It accounts for almost 10% of childhood vision loss worldwide. METHODS: A four generation Chinese family having seven affected individuals was recruited for the current study. Exome sequencing was performed to identify the genetic cause of congenital cataract. RESULTS: Analysis of data identified a novel frameshift mutation, c...
January 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28247339/galactose-epimerase-deficiency-expanding-the-phenotype
#9
Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas, Gert Matthijs, Petra A Mooijer, Luísa Diogo, Jaak Jaeken, Paula Garcia
Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardiomyopathy, followed by liver failure, occurred between 12 and 42 months. The finding of a serum transferrin isoelectrofocusing (IEF) type 1 pattern led to the suspicion of a congenital disorder of glycosylation (CDG)...
March 1, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28237965/genetic-dissection-of-anterior-segment-dysgenesis-caused-by-a-col4a1-mutation
#10
Mao Mao, Márton Kiss, Yvonne Ou, Douglas B Gould
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, between 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1) is an extracellular matrix protein and a critical component of nearly all basement membranes...
February 24, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28224043/pleiotropic-effect-of-a-novel-mutation-in-gcnt2-causing-congenital-cataract-and-a-rare-adult-i-blood-group-phenotype
#11
Sek-Shir Cheong, Sarah Hull, Benjamin Jones, Ravinder Chana, Nicole Thornton, Vincent Plagnol, Anthony T Moore, Alison J Hardcastle
Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28223774/serum-hypercoagulability-states-in-coats-disease
#12
Fariba Ghassemi, Carol L Shields, Masoumeh Mohebbi, Mehdi Nili Ahmadabadi, Fatemeh Morsali, Siamak Sabour
PURPOSE: The purpose of this study was to investigate the serum hypercoagulability state and common viral and protozoan infections in Coats' disease versus a normal control group. MATERIALS AND METHODS: In this comparative case series, 22 consecutive patients with Coats' disease and 19 non-Coats' patients undergoing lensectomy for congenital, traumatic, or senile cataract between January 2011 and June 2014 were included. Laboratory data for hypercoagulability states and common viral and protozoan infections were investigated...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28220267/chimpanzee-down-syndrome-a-case-study-of-trisomy-22-in-a-captive-chimpanzee
#13
Satoshi Hirata, Hirohisa Hirai, Etsuko Nogami, Naruki Morimura, Toshifumi Udono
We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee...
February 21, 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28190459/mutations-in-inpp5k-cause-a-form-of-congenital-muscular-dystrophy-overlapping-marinesco-sj%C3%A3-gren-syndrome-and-dystroglycanopathy
#14
Daniel P S Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn, Khaloob Mushref, Edmund S Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A Sellars, R Sean Hill, Jennifer N Partlow, Rebecca K Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E Swan, Thomas Voit, Francesco J Conti, Yalda Jamshidi, M Chiara Manzini
Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28190456/mutations-in-inpp5k-encoding-a-phosphoinositide-5-phosphatase-cause-congenital-muscular-dystrophy-with-cataracts-and-mild-cognitive-impairment
#15
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G Bönnemann, Osório Abath Neto, Umbertina C Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell'Aica, René P Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C Walter, Tim M Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E Swan, Hanns Lochmüller, Jan Senderek
Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. In individuals exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyphosphate-5-phosphatase K...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28179137/the-impact-of-different-mutations-at-arg54-on-structure-chaperone-like-activity-and-oligomerization-state-of-human-%C3%AE-a-crystallin-the-pathomechanism-underlying-congenital-cataract-causing-mutations-r54l-r54p-and-r54c
#16
Kazem Khoshaman, Reza Yousefi, Ali Mohammad Tamaddon, Samira Sadat Abolmaali, Ahmad Oryan, Ali Akbar Moosavi-Movahedi, Boris I Kurganov
A major part of cataractogenic mutations in human αA-Crystallin (αA-Cry) occurs at Arg residues. While Arg54 is highly conserved within different species, the cataractogenic mutations R54L, R54P and R54C have been recently identified in CRYAA gene, encoding human αA-Cry. The detailed structural and functional aspects, stability and amyloidogenic properties of αA-Cry were determined upon the above-mentioned missense mutations, using various spectroscopic techniques, gel electrophoresis, electron microscopy, size exclusion chromatography analyses, and chaperone-like activity assay...
February 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28157223/novel-variants-in-pax6-gene-caused-congenital-aniridia-in-two-chinese-families
#17
R Zhang, S Linpeng, X Wei, H Li, Y Huang, J Guo, Q Wu, D Liang, L Wu
PurposeTo reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism.MethodsFull ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the detected variants were screened in unaffected family members and two hundred unrelated healthy controls. Real-time quantitative PCR was used to explore pathologic mechanisms of the two variants.ResultsAniridia, cataract, and oscillatory nystagmus were observed in patients of the two families...
February 3, 2017: Eye
https://www.readbyqxmd.com/read/28155230/further-delineation-of-a-rare-recessive-encephalomyopathy-linked-to-mutations-in-gfer-thanks-to-data-sharing-of-whole-exome-sequencing-data
#18
S Nambot, D Gavrilov, J Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28149769/a-novel-splice-site-mutation-of-cryba3-a1-gene-associated-with-congenital-cataract-in-a-chinese-family
#19
Meng-Han Wu, Yin-Hui Yu, Qin-Long Hao, Xiao-Hua Gong, Ke Yao
AIM: To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family. METHODS: The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28148925/a-novel-mutation-in-the-proteolytic-domain-of-lonp1-causes-atypical-codas-syndrome
#20
Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and skeletal abnormalities. We performed whole-exome sequencing on a 12-year-old Japanese male with severe intellectual disability, congenital bilateral cataracts, spasticity, hypotonia with motor regression and progressive cerebellar atrophy with hyperintensity of the cerebellar cortex on T2-weighted images...
February 2, 2017: Journal of Human Genetics
keyword
keyword
46385
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"